Incidental Mutation 'R3857:Ccng1'
| ID |
276216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccng1
|
| Ensembl Gene |
ENSMUSG00000020326 |
| Gene Name |
cyclin G1 |
| Synonyms |
cyclin G |
| MMRRC Submission |
040785-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R3857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
40639379-40646044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40644660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 79
(L79P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020576]
|
| AlphaFold |
P51945 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020576
AA Change: L79P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020576
Gene: ENSMUSG00000020326
AA Change: L79P
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
56 |
142 |
3.63e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151359
|
| Meta Mutation Damage Score |
0.8182 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Depending on the allele, homozygous mutants exhibit increased cellular sensitivity to gamma-irradiation or decreased incidence of induced hepatic tumors. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(4) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb2 |
T |
C |
12: 105,558,698 (GRCm39) |
V313A |
probably benign |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Spice1 |
T |
C |
16: 44,175,806 (GRCm39) |
S2P |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,648,044 (GRCm39) |
T295I |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
probably damaging |
Het |
|
| Other mutations in Ccng1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Ccng1
|
APN |
11 |
40,644,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01875:Ccng1
|
APN |
11 |
40,643,183 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02986:Ccng1
|
APN |
11 |
40,641,690 (GRCm39) |
utr 3 prime |
probably benign |
|
|
G5030:Ccng1
|
UTSW |
11 |
40,644,629 (GRCm39) |
splice site |
probably benign |
|
|
R1375:Ccng1
|
UTSW |
11 |
40,642,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1377:Ccng1
|
UTSW |
11 |
40,642,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1715:Ccng1
|
UTSW |
11 |
40,642,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3620:Ccng1
|
UTSW |
11 |
40,642,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3858:Ccng1
|
UTSW |
11 |
40,644,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5082:Ccng1
|
UTSW |
11 |
40,643,015 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5172:Ccng1
|
UTSW |
11 |
40,642,113 (GRCm39) |
missense |
probably benign |
|
|
R5521:Ccng1
|
UTSW |
11 |
40,643,093 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7431:Ccng1
|
UTSW |
11 |
40,644,745 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7961:Ccng1
|
UTSW |
11 |
40,642,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8009:Ccng1
|
UTSW |
11 |
40,642,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8794:Ccng1
|
UTSW |
11 |
40,644,826 (GRCm39) |
missense |
probably benign |
|
|
R9036:Ccng1
|
UTSW |
11 |
40,643,078 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9530:Ccng1
|
UTSW |
11 |
40,644,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Ccng1
|
UTSW |
11 |
40,644,871 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCCTAATCCAGAAATTTGATGG -3'
(R):5'- GGAGTCTAGATGTCAGCCAAAG -3'
Sequencing Primer
(F):5'- AGGGCCTCAGATTTCAACTG -3'
(R):5'- TCTAGATGTCAGCCAAAGGTCTGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation